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The vast impact rare disease can have on patients and their families

The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.

Rare diseases do not only impact those living with them; they also greatly affect caregivers. Here, we explore how both patients and caregivers experience Severe Pediatric Alpha-1 Liver Disease.

The vast impact rare disease can have

Alpha-1 antitrypsin deficiency is a rare genetic disorder that can lead to liver disease in children due to excessive amounts of alpha-1 buildup in the liver.1 The condition shows up in infants as jaundice of the skin and eyes at birth, and in young children as jaundice, swollen abdomen, poor weight gain and/or digestive issues.2

While rare diseases like Alpha-1 Liver Disease may seem abstract or insignificant to those who are not affected by them, they are very real to those who are, with significant emotional and psychological consequences in addition to the physical toll. The true impact is best communicated by patients and caregivers managing the disease, who have shared their insights on the challenges they face and the hope they carry.

The patient experience*

Children with Alpha-1 Liver Disease have vastly different childhood and life experiences than those who do not live with the condition. On top of the various medical challenges they must manage, they are often both physically and emotionally isolated from other kids

and the world around them. Consider these challenges patients encounter:

  • Considerations around travel: If they are traveling, patients and their caregivers must be conscious of staying close to hospitals that specialize in Alpha-1 Liver Disease in case of a medical emergency.
  • Clarity around disease progression: Presently, there is no way to predict which patients will rapidly progress or spontaneously resolve. This can leave both caregivers and patients with fear of the unknown as they monitor the disease’s changes and hope for the best.

The caregiver experience**

Parents of children with Alpha-1 Liver Disease are often forced to make sacrifices as their children face unimaginable medical circumstances. Here are just a few:

  • Work adjustments: Like many parents of children with rare conditions, caregivers of children with Alpha-1 Liver Disease often have to adjust their work/life balance to allow them to serve as either full or part-time caregivers.
  • Anxiety: The disease can result in fear and anxiety for caregivers. One mother disclosed that when her child was first undergoing referrals and examinations to determine their diagnosis, she didn’t sleep and it was a very scary time for the family.
  • Wanting to take action: Caregivers often wish that they could do more to address their child’s Alpha-1 Liver Disease, but due to the limited understanding of the condition, there is only so much they can do. The mother of a child diagnosed with the condition at 10-weeks old shared, “You’re basically told this is the disease, there’s no treatment, there’s no cure apart from transplant, and that’s it, go away and just wait for your child to get sick — it’s the most frustrating and powerless moment I think you could ever imagine as a parent.”
  • Finding strength in unexpected places: While Alpha-1 Liver Disease poses numerous challenges, those impacted often report new outlooks on life that help them find hope and stay positive:
    • One parent remarked that the condition has made her family “thankful for every single day we have with our daughter. She is the biggest blessing in this life, and we know she will overcome this.”
    • Upon her daughter’s diagnosis, another parent said, “It was like a breath of fresh air getting in with the liver specialist [to start] getting testing done…[to] finally get an answer.”

This Rare Disease Day, we remain committed to thinking about rare conditions like Alpha-1 Liver Disease from both the patient and caregiver perspective, understanding the challenges faced by both groups and finding ways to help. These perspectives continue to inspire and drive us forward in developing treatment options and providing support and advocacy for patients and caregivers at every step of their disease journeys.

 

*Patients who suffer from Alpha-1 Liver Disease are often too young to express their disease experience. Messages have been extracted from research and caregiver interviews.

**Caregiver experience has been extracted from interviews.

Read more of our Rare Disease Day 2022 stories here.


References

  1. Fromme M, Schneider CV, Trautwein C et al. Alpha-1 antitrypsin deficiency: a re-surfacing adult liver disorder. Journal of Hepatology. In Press Journal Pre-Proof. Published online: November 27, 2021.
  2. Alpha-1 Antitrypsin Deficiency Symptoms and Treatment. Children’s Hospital of Pittsburgh. https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/alpha-1-antitrypsin-deficiency. Accessed January 10, 2022.